CLDN20
Claudin 20, a tight junction protein with potential roles in barrier function and cancer
Gene Information Card
| Symbol | CLDN20 |
|---|---|
| Full Name | Claudin 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 49861 ncbi.nlm.nih.gov/gene/49861 |
| Ensembl ID | ENSG00000112562 |
| UniProt ID | P56880 |
| OMIM ID | 617213 |
| HGNC ID | 2035 |
| Aliases | FLJ20032 |
Description
CLDN20 encodes claudin 20, a member of the claudin family of tight junction proteins. Claudins are integral membrane proteins that form paracellular barriers and pores, regulating ion and solute transport across epithelial and endothelial sheets. CLDN20 is expressed in various tissues and has been implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may disrupt tight junctions, promoting invasion | PubMed, COSMIC |
| Colorectal cancer | Downregulation associated with poor prognosis | PubMed, COSMIC |
| Gastric cancer | Methylation-mediated silencing linked to metastasis | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney |
| MCF7 | 8.9 | Breast cancer |
| HCT116 | 5.4 | Colorectal cancer |
| A549 | 3.1 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | <0.01% | Unknown functional impact |
| c.341C>T (p.Pro114Leu) | Missense | <0.01% | Unknown functional impact |
| c.424_425insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.424_425insA) likely cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Tight junction | • Cell-cell junction |
| • Integral component of membrane | • Protein homooligomerization |
| • Paracellular transport |
Pathways
• Tight junction (KEGG hsa04530)
• Cell adhesion molecules (CAMs)
Protein Summary
Claudin 20 is a 219-amino-acid transmembrane protein with four transmembrane domains, two extracellular loops, and intracellular N- and C-termini. It localizes to tight junctions and contributes to paracellular barrier function. Expression is tissue-specific and dysregulated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLDN20 Knockout HEK293 Cell Line | EDJ-KQ10654 | Human | 49861 | Details Get a Quote |
| CLDN20 Knockout HeLa Cell Line | EDJ-KQ56163 | Human | 49861 | Details Get a Quote |
| CLDN20 Knockout A-549 Cell Line | EDJ-KQ64652 | Human | 49861 | Details Get a Quote |
| CLDN20 Knockout HCT 116 Cell Line | EDJ-KQ73100 | Human | 49861 | Details Get a Quote |
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